WormBase Tree Display for Gene: WBGene00000803
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| WBGene00000803 | SMap | S_parent | Sequence | F53H4 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | csb-1 | |||||||
| Sequence_name | F53H4.1 | ||||||||
| Molecular_name | F53H4.1 | ||||||||
| F53H4.1.1 | |||||||||
| CE33793 | |||||||||
| Other_name | Cecsb | ||||||||
| CELE_F53H4.1 | Accession_evidence | NDB | BX284606 | ||||||
| Public_name | csb-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:21 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | csb | ||||||||
| Allele (86) | |||||||||
| Strain | WBStrain00032492 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00086574 | ||||||||
| 00086575 | |||||||||
| 00086576 | |||||||||
| 00086577 | |||||||||
| 00086578 | |||||||||
| 00086579 | |||||||||
| 00086580 | |||||||||
| 00086581 | |||||||||
| 00107832 | |||||||||
| 00107833 | |||||||||
| Contained_in_operon | CEOPX182 | ||||||||
| Ortholog (52) | |||||||||
| Paralog (20) | |||||||||
| Structured_description | Concise_description | csb-1 encodes an ortholog to human CSB/ERCC6; CSB-1 contains a SNF2-like ATPase domain, similar to human CSB, which is mostly deleted in the functional null allele, ok2335; CSB-1 functions in the transcription coupled repair (TCR) pathway of nucleotide excision repair (NER), and is essential for somatic cells to overcome the deleterious effects of UV irradiation; csb-1 is not essential in germ cells where it functions redundantly to xpc-1 and rad-23 in the UV response; loss of csb-1 does not affect UV-induced germ cell apoptosis, although an increase in UV-induced apoptosis in germ cells was observed in Cecsb(RNAi) worms; CSB-1 is expressed throughout development and in the adult, first appearing at the 50-100 cell stage embryo; expression overall was observed in the cells that were dividing and cells that play fundamental roles in essential physiological functions such as feeding, sensation, and reproduction. | Paper_evidence | WBPaper00005346 | |||||
| WBPaper00036260 | |||||||||
| Person_evidence | WBPerson1684 | ||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPerson712 | |||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 26 Jul 2010 00:00:00 | ||||||||
| Automated_description | Predicted to enable ATP-dependent activity, acting on DNA and DNA binding activity. Involved in UV protection and transcription-coupled nucleotide-excision repair. Predicted to be located in nucleus. Expressed in several structures, including copulatory spicule; egg-laying apparatus; neurons; oocyte; and postcloacal sensillum. Used to study Cockayne syndrome. Human ortholog(s) of this gene implicated in several diseases, including Cockayne syndrome (multiple); gastrointestinal system cancer (multiple); and respiratory system cancer (multiple). Is an ortholog of human ERCC6 (ERCC excision repair 6, chromatin remodeling factor). | Paper_evidence | WBPaper00065943 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson37462 | |||||||||
| Inferred_automatically | This description was generated automatically by a script based on data from the WS291 version of WormBase | ||||||||
| Date_last_updated | 29 Nov 2023 00:00:00 | ||||||||
| Disease_info | Experimental_model | DOID:2962 | Homo sapiens | Paper_evidence | WBPaper00036260 | ||||
| WBPaper00005346 | |||||||||
| WBPaper00060426 | |||||||||
| Accession_evidence | OMIM | 133540 | |||||||
| 211980 | |||||||||
| 214150 | |||||||||
| 278800 | |||||||||
| 600630 | |||||||||
| 613761 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 27 Oct 2022 00:00:00 | ||||||||
| Potential_model (18) | |||||||||
| Disease_relevance | Mutations in the human ERCC6/CSB gene, which is part of the nucleotide excision repair (NER) pathway, are associated with Cockayne Syndrome (Type B), a rare autosomal recessive disorder characterized by premature aging, Cerebroculofacioskeletal Syndrome (an autosomal recessive progressive neurodegenerative disorder), De Sanctis-Cacchione syndrome (patients have xeroderma pigmentosum, mental deficiency, progressive neurologic deterioration, dwarfism, and gonadal hypoplasia), UV-Sensitive Syndrome, and Age-Related Macular Degeneration; in C. elegans, knock-down of the ERCC6 ortholog, csb-1, via RNA interference hypersensitized C.elegans to UV radiation, as observed in enhanced germ cell proliferation arrest and apoptosis, and increased embryonic lethality, suggesting its role in nucleotide excision repair; these phenotypes suggest that C. elegans can be used as a whole-animal model system to study CSB functions. | Homo sapiens | Paper_evidence | WBPaper00005346 | |||||
| Accession_evidence | OMIM | 133540 | |||||||
| 214150 | |||||||||
| 278800 | |||||||||
| 600630 | |||||||||
| 211980 | |||||||||
| 613761 | |||||||||
| 609413 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 04 Jun 2014 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00001007 | ||||||||
| Models_disease_asserted | WBDOannot00000127 | ||||||||
| WBDOannot00001343 | |||||||||
| WBDOannot00001344 | |||||||||
| WBDOannot00001345 | |||||||||
| Molecular_info | Corresponding_CDS | F53H4.1 | |||||||
| Corresponding_CDS_history | F53H4.1:wp99 | ||||||||
| Corresponding_transcript | F53H4.1.1 | ||||||||
| Other_sequence | Acan_isotig17411 | ||||||||
| PTC04635_1 | |||||||||
| ACC15300_1 | |||||||||
| FC542212.1 | |||||||||
| FC549607.1 | |||||||||
| PT04497 | |||||||||
| Associated_feature | WBsf1008352 | ||||||||
| WBsf238362 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00001828 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00022785 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00048192 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00075556 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr1917 | ||||||||
| Expr1024112 | |||||||||
| Expr1030501 | |||||||||
| Expr1152004 | |||||||||
| Expr2010547 | |||||||||
| Expr2028787 | |||||||||
| Drives_construct | WBCnstr00010518 | ||||||||
| WBCnstr00037265 | |||||||||
| WBCnstr00042546 | |||||||||
| Construct_product | WBCnstr00010518 | ||||||||
| WBCnstr00037265 | |||||||||
| WBCnstr00042546 | |||||||||
| Microarray_results (20) | |||||||||
| Expression_cluster (146) | |||||||||
| Interaction (74) | |||||||||
| Map_info | Map | X | Position | 22.9629 | Error | 0.001118 | |||
| Positive | Positive_clone | F53H4 | Inferred_automatically | From CDS info | |||||
| From sequence, transcript, pseudogene data | |||||||||
| Pseudo_map_position | |||||||||
| Reference (19) | |||||||||
| Remark | The gene was originally referred to as Cecsb in pubmed 12095617, [krb 020716] | ||||||||
| Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. | CGC_data_submission | ||||||||
| Method | Gene |
